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rs34258285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs34258285(A;C)
Make rs34258285(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position8813057
GenePMM2
is asnp
is mentioned by
dbSNPrs34258285
ebirs34258285
HLIrs34258285
Exacrs34258285
Varsomers34258285
Maprs34258285
PheGenIrs34258285
hapmaprs34258285
1000 genomesrs34258285
hgdprs34258285
ensemblrs34258285
gopubmedrs34258285
geneviewrs34258285
scholarrs34258285
googlers34258285
pharmgkbrs34258285
gwascentralrs34258285
openSNPrs34258285
23andMers34258285
23andMe allrs34258285
SNP Nexus

SNPshotrs34258285
SNPdbers34258285
MSV3drs34258285
GWAS Ctlgrs34258285
GMAF0.01286
Max Magnitude0
Venter snp
Source plos
Gene PMM2
allele C
frequency
sift TOLERATED
HuRef 1103645419295
Disease Association Defects in PMM2 are the cause of congenital disorder of glycosylation type Ia (CDG-Ia) (MIM:212065); also known as carbohydrate-deficient glycoprotein type 1 syndrome (CDGS1) or Jaeken syndrome or disease. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins and are caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol-oligosaccharide used for protein N- glycosylation. CDG-Ia is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.



ClinVar
Risk rs34258285(C;C)
Alt rs34258285(C;C)
Reference rs34258285(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PMM2
CLNDBN not specified
Reversed 0
HGVS NC_000016.9:g.8906914A>C
CLNSRC HGMD
CLNACC RCV000078593.4,